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Autism-Open Access

Autism-Open Access
Open Access

ISSN: 2165-7890

+44 1223 790975

Amina Hindawy

Department of Pediatrics, Cairo University, Giza, Egypt

Publications
  • Research Article   
    Diagnostic Approach to Cerebellar Disorders amongst Egyptian Children
    Author(s): Hisham Megahed, Ashraf Selim, Nadia Galal Elhefnawy, Amina Hindawy and Khaled Hamed*

    Our present study includes 72 Egyptian children diagnosed to suffer from cerebellar atrophy by brain MRI. All cases were subjected to detailed clinical examination, laboratory tests, neuro-physiological, neuro-radiological, and genetic studies using Whole-Exome Sequencing (WES). Accordingly, we stratified our cases into initial groups. Neuronal Ceroid Lipofuscinosis (NCL) is the most commonly identified disorder in the cohort. This is followed by metachromatic leukodystrophy, mitochondrial encephalopathy, adreno-leukodystrophy, Aicardi syndrome, and Joubert syndrome. Integration of proper clinical examination, laboratory investigations, neurophysiological, and neuro-radiological investigations are essential to prioritize the optimal further potential genetic assessment... View More»
    DOI: 10.35248/2165-7890.22.12.343

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